Canonical Allele Identifier: CA2202658643

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243403_3243406delinsTTCA , CM000678.2:g.3243403_3243406delinsTTCA	GRCh38
NC_000016.9:g.3293403_3293406delinsTTCA , CM000678.1:g.3293403_3293406delinsTTCA	GRCh37
NC_000016.8:g.3233404_3233407delinsTTCA	NCBI36
NG_007871.1:g.18222_18225delinsTGAA , LRG_190:g.18222_18225delinsTGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1202_1205delinsTGAA
ENST00000219596.6:c.2081_2084delinsTGAA MANE Select	ENSP00000219596.1:p.Met694=
ENST00000219596.5:c.2081_2084delinsTGAA	ENSP00000219596.1:p.Met694=
ENST00000339854.8:c.1541_1544delinsTGAA	ENSP00000339639.4:p.Met514=
ENST00000536379.5:c.1448_1451delinsTGAA	ENSP00000445079.1:p.Met483=
ENST00000536980.5:c.*357_*360delinsTGAA	ENSP00000444178.1:n.*357_*360delinsTGAA
ENST00000537682.5:c.*357_*360delinsTGAA	ENSP00000438611.1:n.*357_*360delinsTGAA
ENST00000538326.5:c.*706_*709delinsTGAA	ENSP00000437486.1:n.*706_*709delinsTGAA
ENST00000539145.5:c.1002_1005delinsTGAA	ENSP00000444471.1:n.1002_1005delinsTGAA
ENST00000541159.5:c.1623_1626delinsTGAA	ENSP00000438711.1:n.1623_1626delinsTGAA
ENST00000542898.5:c.*357_*360delinsTGAA	ENSP00000444615.1:n.*357_*360delinsTGAA
ENST00000570511.5:c.1486_1489delinsTGAA	ENSP00000458312.1:n.1486_1489delinsTGAA
ENST00000572244.5:c.771_774delinsTGAA	ENSP00000461186.1:n.771_774delinsTGAA
ENST00000574583.5:c.853_856delinsTGAA	ENSP00000460269.1:n.853_856delinsTGAA
ENST00000576315.5:c.886_889delinsTGAA	ENSP00000460551.1:n.886_889delinsTGAA
ENST00000621655.1:c.1618_1621delinsTGAA	ENSP00000481436.1:n.1618_1621delinsTGAA
NM_000243.2:c.2081_2084delinsTGAA , LRG_190t1:c.2081_2084delinsTGAA	NP_000234.1:p.Met694=
NM_001198536.1:c.*285_*288delinsTGAA	NP_001185465.1:n.*285_*288delinsTGAA
XM_017023236.2:c.2078_2081delinsTGAA	XP_016878725.1:p.Met693=
NM_000243.3:c.2081_2084delinsTGAA MANE Select	NP_000234.1:p.Met694=
NM_001198536.2:c.*285_*288delinsTGAA	NP_001185465.2:n.*285_*288delinsTGAA